Gene Symbol | NT5C3A |
Entrez Gene ID | 51251 |
Full Name | 5'-nucleotidase, cytosolic IIIA |
Synonyms | NT5C3,P5'N-1,P5N-1,PN-I,POMP,PSN1,UMPH,UMPH1,cN-III,hUMP1,p36 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3) |